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Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta‑hydroxylase deficiency

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World Journal of pediatrics 2024年第4期20卷 422-433页

作者： Wen‑Li Lu Xiao‑Yu Ma Jiao Zhang Jun‑Qi Wang Ting‑Ting Zhang Lei Ye Yuan Xiao Zhi‑Ya Dong Wei Wang Shou‑Yue Sun Chuan‑Yin Li Rong‑Gui Hu Guang Ning Li‑Dan Zhang department of pediatrics Ruijin HospitalShanghai Jiao Tong University School of MedicineNo.197Ruijin 2nd RdHuangpu DistrictShanghai 200025China department of pediatric genetic and metabolic endocrinology West China Second University HospitalSichuan UniversityNo.20Section 3Renmin South RoadSichuan 610041China department of Endocrine and metabolic Diseases Shanghai Clinical Center for Endocrine and Metabolic DiseasesRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Cancer Center School of MedicineShanghai Tenth People’s HospitalTongji UniversityYanchang Zhong Lu 301St RdJing’an DistrictShanghai 200031China

Background The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of nonclassical 21-hydroxylase *** this study,we investigated the relationship between the clinical and molecular features of congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency and reviewed the related literature,which are expected to provide assistance for the clinical diagnosis and analysis of congenital adrenal *** Clinical data for 10 Chinese patients diagnosed with congenital adrenal hyperplasia in our hospital from 2018 to 2022 were retrospectively *** examined the effects of gene mutations on protease activity and constructed threedimensional structure prediction models of *** We describe 10 patients with 11beta-hydroxylase gene mutations(n=5,46,XY;n=5,46,XX),with 10 novel mutations were *** patients received treatment at an early stage,with an average age of 2.08±1.66 years,whereas male patients received treatment significantly later,at an average age of 9.77±3.62 *** most common CYP11B1 pathogenic variant in the Chinese population was found to be c.1360C>*** mutations lead to spatial conformational changes that affect protein *** Our study found that there was no significant correlation between each specific mutation and the severity of clinical *** patients with the same gene pathogenic variant may have mild or severe clinical *** correlation between genotype and phenotype needs further ***-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.

关键词： 11β-hydroxylase deficiency CYP11B1 Enzymatic activity Phenotype-genotype correlation Threedimensional protein simulations

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Exercise-induced microbial changes in preventing type 2 diabetes

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Science China(Life Sciences) 2024年第5期67卷 892-899页

作者： Ting Yao Hui Wang Kaiqing Lin Ruwen Wang Shanshan Guo Peijie Chen Hao Wu Tiemin Liu Ru Wang School of Exercise and Health Shanghai Frontiers Science Research Base of Exercise and Metabolic HealthShanghai University of SportShanghai 200438China department of Physiology and Pathophysiology School of Basic Medical SciencesXi’an Jiaotong University School of MedicineXi’an 710061China Shanghai Key Laboratory of metabolic Remodeling and Health Institute of Metabolism&Integrative BiologyFudan UniversityShanghai 200433China State Key Laboratory of genetic Engineering Human Phenome InstituteFudan Microbiome Centerand Department of Bariatric and Metabolic SurgeryHuashan HospitalFudan UniversityShanghai 201203China State Key Laboratory of genetic Engineering Department of Endocrinology and MetabolismHuman Phenome Instituteand School of Life SciencesZhongshan HospitalFudan UniversityShanghai 200032China

The metabolic benefits associated with long-term physical activity are well appreciated and growing evidence suggests that it involves the gut *** we re-evaluated the link between exercise-induced microbial changes and those associated with prediabetes and *** found that the relative abundances of substantial amounts of diabetes-associated metagenomic species associated negatively with physical fitness in a Chinese athlete students *** additionally showed that those microbial changes correlated more with handgrip strength,a simple but valuable biomarker suggestive of the diabetes states,than maximum oxygen intake,one of the key surrogates for endurance ***,the causal relationships among exercise,risks for diabetes,and gut microbiota were explored based on mediation *** propose that the protective roles of exercise against type 2 diabetes are mediated,at least partly,by the gut microbiota.

关键词： gut microbiota body fat diabetes handgrip maximum oxygen intake

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Challenges and pitfalls of youth-onset type 2 diabetes

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World Journal of Diabetes 2024年第5期15卷 876-885页

作者： Lavinia La Grasta Sabolic Sanda Marusic Maja Cigrovski Berkovic department of pediatric endocrinology and Diabetology University Hospital Centre Sestre MilosrdniceZagreb 10000Croatia School of Medicine Catholic University of CroatiaZagreb 10000Croatia department for Sport and Exercise Medicine University of Zagreb Faculty of KinesiologyZagreb 10000Croatia

The incidence and prevalence of youth-onset type 2 diabetes mellitus(T2DM)are *** rise in frequency and severity of childhood obesity,inclination to sedentary lifestyle,and epigenetic risks related to prenatal hyperglycemia exposure are important drivers of the youth-onset T2DM epidemic and might as well be responsible for the early onset of diabetes ***,youth-onset T2DM has a more extreme metabolic phenotype than adult-onset T2DM,with greater insulin resistance and more rapid deterioration of beta cell ***,intermediate complications such as microalbuminuria develop in late childhood or early adulthood,while end-stage complications develop in *** to the lack of efficacy and safety data,several drugs available for the treatment of adults with T2DM have not been approved in youth,reducing the pharmacological treatment *** this mini review,we will try to address the present challenges and pitfalls related to youth-onset T2DM and summarize the available interventions to mitigate the risk of microvascular and macrovascular complications.

关键词： Youth-onset type 2 diabetes mellitus Insulin resistance Beta cell failure Risk factors Therapy Complications

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Serum 25-hydroxyvitamin D,genetic susceptibility,and the risk of incident type 2 diabetes:A prospective cohort in East China

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Chinese Medical Journal 2024年第8期137卷 972-979页

作者： Ying Sun Haojie Zhang Bin Wang Yuying Wang Chi Chen Yi Chen Yingli Lu Ningjian Wang Institute and department of endocrinology and Metabolism Shanghai Ninth People’s HospitalShanghai JiaoTong University School of MedicineShanghai 200011China department of endocrinology and Metabolism and department of Guideline and Rapid Recommendation Cochrane China CenterMAGIC China CenterChinese Evidence-Based Medicine CenterWest China HospitalSichuan UniversityChengduSichuan 610041China department of endocrinology Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese MedicineShanghai 201203China

Background:The serum vitamin D level varies widely by population,and studies have linked vitamin D levels with the risk of type 2 diabetes mellitus(T2DM).However,the relationship is inconsistent and the impact of vitamin D on T2DM among East Chinese adults is *** study aimed to investigate the association between serum 25-hydroxyvitamin D(25[OH]D)levels and the risk of T2DM and evaluated whether the association is modified by genetic ***:In the Survey on Prevalence in East China for metabolic Diseases and Risk Factors(SPECT-China)cohort,1862 participants free of T2DM at baseline were included.A weighted genetic risk score was calculated with 28 variants associated with *** logistic models were used to examine the association of serum 25(OH)D and genetic risk with ***:After a 5-year follow-up,132 cases of T2DM were *** observed no significant association between quartiles of serum 25(OH)D and T2DM risk after multivariable adjustment(χ^(2)=0.571,P_(for trend)=0.426).Compared to those in the lowest quartile of 25(OH)D,the odds ratios(ORs)(95%confidence interval[CI])for participants with increased quartiles were 1.29(0.74-2.25),1.35(0.77-2.36),and 1.27(0.72-2.24),*** observed a positive association of glycated hemoglobin(HbA1c)with 25(OH)D at baseline(β=1.752,P=0.001)and after follow-up(β=1.385,P=0.003),and a negative association of ln conversion homeostasis model assessment(HOMA)-βwith 25(OH)D at baseline(β=-0.982,P=0.021).There was no significant interaction between 25(OH)D and diabetes genetic predisposition on the risk of T2DM(χ^(2)=2.710,P_(for interaction)=0.100).The lowest OR(95%CI)of T2DM was among participants with low genetic risk and the highest quartile of 25(OH)D(0.17[0.05-0.62]).Conclusion:Serum 25(OH)D may be irrelevant to the risk of incident T2DM among East Chinese adults regardless of genetic predisposition.

关键词： Vitamin D Diabetes mellitus,Type 2 genetic predisposition to disease Prospective cohort Glycated hemoglobin SPECT-China

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Drawing lines in the sand: The growing threat of obesity in type 1 diabetes

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World Journal of Diabetes 2024年第5期15卷 823-827页

作者： Theocharis Koufakis Dimitrios Patoulias Ioanna Zografou Nikolaos Papanas Djordje S Popovic Second Propedeutic department of Internal Medicine Aristotle University of ThessalonikiThessaloniki 54642Greece Diabetes Centre Second Department of Internal MedicineDemocritus University of ThraceAlexandroupolis 68100Greece Clinic for endocrinology Diabetes and Metabolic DisordersClinical Center of VojvodinaMedical FacultyUniversity of Novi SadNovi Sad 21000Serbia

In this editorial,we comment on the article by Zeng et al published in the recent issue of the World Journal of Diabetes in *** focus on the epidemiological,pathophysiological,and clinical interplay between obesity and type 1 diabetes mellitus(T1DM).Overweight and obesity represent a growing threat for modern societies and people with T1DM could not be an exception to this *** exogenous insulin administration,genetic and epigenetic factors,and psy-chosocial and behavioral parameters,along with the modern way of life that incorporates unhealthy eating patterns and physical inactivity,set the stage for the increasing obesity rates in *** our knowledge of the underlying mechanisms that lead to the development of obesity and hyperglycemia expands,it becomes clear that there are overlap zones in the pathophysiology of the two main types of *** regarding strict dividing lines between“autoimmune”and“metabolic”phenotypes increase the risk of trapping physicians into ineffective therapeutic approaches,instead of individualized diabetes *** this context,the use of adjuncts to insulin therapy that have the potential to alleviate cardiorenal risk and decrease body weight can reduce the burden of obesity in patients with T1DM.

关键词： Obesity Overweight Type 1 diabetes metabolic syndrome

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Rising tide: The global surge of type 2 diabetes in children and adolescents demands action now

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World Journal of Diabetes 2024年第5期15卷 797-809页

作者： Joseph M Pappachan Cornelius James Fernandez Ambika P Ashraf department of endocrinology and Metabolism Lancashire Teaching Hospitals NHS TrustPreston PR29HTUnited Kingdom Faculty of Science Manchester Metropolitan UniversityManchester M156BHUnited Kingdom Faculty of Biology Medicine&HealthThe University of ManchesterManchester M139PLUnited Kingdom department of endocrinology&Metabolism Pilgrim HospitalUnited Lincolnshire Hospitals NHS TrustBoston PE219QSUnited Kingdom Division of pediatric endocrinology and Diabetes Department of PediatricsUniversity of Alabama at BirminghamBirminghamAL 35233United States

Childhood-onset obesity has emerged as a major public healthcare challenge across the globe,fueled by an obesogenic environment and influenced by both genetic and epigenetic *** has led to an exponential rise in the incidence of type 2 diabetes mellitus in children and *** looming wave of diabetes-related complications in early adulthood is anticipated to strain the healthcare budgets in most *** there is a collective global effort to curb the devastation caused by the situation,the impact is poised to be pro-found.A multifaceted research effort,governmental legislation,and effective social action are crucial in attaining this *** article delves into the current epidemiological landscape,explores evidence concerning potential risks and consequences,delves into the pathobiology of childhood obesity,and discusses the latest evidence-based management strategies for diabesity.

关键词： Childhood obesity Diabesity Type 2 diabetes mellitus Adolescence Cardiovascular disease Pharmacotherapy

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A novel homozygous missense variant in ARSK causes MPS X,a new subtype of mucopolysaccharidosis

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Genes & Diseases 2024年第3期11卷 87-90页

作者： Miao Sun Cornelia K.Kaminsky Philip Deppe Mai-Brittllse Frederic M.Vaz Barbara Plecko Torben Lubke Linda M.Randolph Division of Genomic Medicine Department of Pathology and Laboratory MedicineChildren's Hospital Los Angeles/Keck School of Medicine of USCLos AngelesCA 90027USA department of Radiology Children's Hospital Los Angeles/Keck School of Medicine of USCLos AngelesCA 90027USA department of Chemistry BiochemistryBielefeld UniversityBielefeld 33615Germany Amsterdam UMC Location University of Amsterdam Department of Clinical Chemistry and PediatricsLaboratory Genetic Metabolic DiseasesEmma Children's HospitalMeibergdreef 9Amsterdam 1100 DEthe Netherlands Amsterdam Gastroenterology endocrinology Metabolism Inborn Errors of MetabolismAmsterdam 1105 BKthe Netherlands Core Facility Metabolomics Amsterdam UMC Location University of AmsterdamAmsterdam 1100DDthe Netherlands department of pediatrics Division of General PediatricsMedical Universityof GrazGraz8036Austria Division of Medical genetics Department of PediatricsChildren's Hospital Los Angeles/Keck School of Medicine of USCLos AngelesCA 90027USA

Mucopolysaccharidoses(MPS)are a group of rare inborn errors of metabolism caused by defective lysosomal enzymes which prevent cells from degrading and recycling certain carbohydrates and fats,resulting in the storage of glycosaminoglycans in cells throughout the *** leads to multisystem abnormalities involving bone,connective tissues,brain,blood,spinal cord,skin,and other tissues.

关键词： metabolism doses polys

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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA department of pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany department of pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia department of pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan department of pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates department of genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates department of pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA department of pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia department of genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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Transient diabetes mellitus with ABCC8 variant successfully treated with sulfonylurea:Two case reports and review of literature

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World Journal of Diabetes 2024年第8期15卷 1811-1819页

作者： Ling-Hua Shen Yan Cui Dong-Xia Fu Wei Yang Sheng-Nan Wu Hui-Zhen Wang Hai-Hua Yang Yong-Xing Chen Hai-Yan Wei department of endocrinology and Metabolism Henan Key Laboratory of Children's Genetics and Metabolic DiseasesChildren's Hospital Affiliated to Zhengzhou UniversityHenan Children's Hospital Zhengzhou Children's HospitalZhengzhou 450018Henan ProvinceChina

BACKGROUND Transient neonatal diabetes mellitus(TNDM)is a rare form of diabetes mellitus that usually presents within the first 6 mo of *** often enter remission within several months,although relapse can occur later in *** in the ABCC8 gene,which encodes the sulfonylurea receptor 1 of the ATP-sensitive potassium channel in pancreatic beta cells,are associated with TNDM and permanent neonatal *** study describes a novel de novo c.3880C>T heterozygous ABCC8 variant that causes TNDM and can be treated with sulfonylurea *** SUMMARY We retrospectively analyzed 2 Chinese patients with TNDM who were diagnosed,treated,or referred for follow-up between September 2017 and September *** patients were tested for mutations using targeted next-generation *** with neonatal diabetes mellitus caused by a c.3880C>T heterozygous missense variant in the ABCC8 gene have not been reported *** children had an onset of post-infectious diabetic ketoacidosis,which is worth *** a follow-up visit after discontinuing insulin injection,oral glyburide was found to be effective with no adverse *** Early genetic testing of neonatal diabetes mellitus aids in accurate diagnosis and treatment and helps avoid daily insulin injections that may cause pain.

关键词： Neonatal diabetes mellitus ABCC8 Sulfonylurea receptors 1 KATP channels Sulfonylurea Glyburide Insulinulin Case report

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Follicle stimulating hormone controls granulosa cell glutamine synthesis to regulate ovulation

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Protein & Cell 2024年第7期15卷 512-529页

作者： Kai-Hui Zhang Fei-Fei Zhang Zhi-Ling Zhang Ke-Fei Fang Wen-Xing Sun Na Kong Min Wu Hai-Ou Liu Yan Liu Zhi Li Qing-Qing Cai Yang Wang Quan-Wei Wei Peng-Cheng Lin Yan Lin Wei Xu Cong-Jian Xu Yi-Yuan Yuan Shi-Min Zhao The Obstetrics&Gynecology Hospital of Fudan University State Key Laboratory of Genetic EngineeringFudan UniversityShanghai 200090China Shanghai Key Laboratory of metabolic Remodeling and Children’s Hospital of Fudan UniversityShanghai 200032China School of Life Sciences and Institutes of Biomedical Sciences Fudan UniversityShanghai 200438China department of Nutrition and Food Hygiene School of Public HealthNantong UniversityNantong 226019China Reproductive Medicine Center The Affiliated Drum Tower Hospital of Nanjing University Medical SchoolNanjing 210008China Shanghai Fifth People’s Hospital of Fudan University Fudan UniversityShanghai 200240China department of Animal Science and Technology Nanjing Agricultural UniversityNanjing 210014China Key Laboratory for Tibet Plateau Phytochemistry of Qinghai Province College of PharmacyQinghai University for NationalitiesXining 810007China pediatric Research Institute Children’s Hospital Affiliated to Shandong University(Jinan Children’s Hospital)Jinan 250022China

Polycystic ovary syndrome(PCOS)is the leading cause of anovulatory *** understanding of the ovulation drivers hinders PCOS ***,we report that follicle stimulating hormone(FSH)controls follicular fluid(FF)glutamine levels to determine *** ovulation starts from FF-exposing granulosa cell(GC)*** glutamine,which decreases in pre-ovulation porcine FF,elevates in PCOS patients ***-glutamine chow to elevate FF glutamine inhibits mouse GC apoptosis and induces hormonal,metabolic,and morphologic PCOS ***,follicle-development-driving FSH promotes GC glutamine synthesis to elevate FF glutamine,which maintain follicle wall integrity by inhibiting GC apoptosis through inactivating ASK1-JNK apoptotic *** and glutamine inhibit the rapture of cultured murine *** removal or ASK1-JNK pathway activation with metformin or AT-101 reversed PCOS traits in PCOS models that are induced with either glutamine or *** suggest that glutamine,FSH,and ASK1-JNK pathway are targetable to alleviate PCOS.

关键词： ovulation glutamine granulosa cells PCOS FSH

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